SLC25A27

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)4.90130427
2central nervous system myelination (GO:0022010)4.90130427
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.61952900
4neuron cell-cell adhesion (GO:0007158)4.57754666
5synaptic vesicle maturation (GO:0016188)4.51869288
6neuronal action potential propagation (GO:0019227)4.42204248
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.41787582
8vocalization behavior (GO:0071625)4.37790386
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.36710054
10synaptic vesicle exocytosis (GO:0016079)4.32758970
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.27965333
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.21901028
13glutamate secretion (GO:0014047)4.16503746
14regulation of synaptic vesicle exocytosis (GO:2000300)4.13560739
15presynaptic membrane organization (GO:0097090)4.11741514
16locomotory exploration behavior (GO:0035641)3.97328532
17protein localization to synapse (GO:0035418)3.97113346
18response to pheromone (GO:0019236)3.96983458
19synaptic vesicle docking involved in exocytosis (GO:0016081)3.96915030
20sodium ion export (GO:0071436)3.96730418
21regulation of glutamate receptor signaling pathway (GO:1900449)3.87069329
22synaptic transmission, glutamatergic (GO:0035249)3.85776072
23glutamate receptor signaling pathway (GO:0007215)3.84171852
24neuron recognition (GO:0008038)3.83729222
25presynaptic membrane assembly (GO:0097105)3.82677045
26dendritic spine morphogenesis (GO:0060997)3.81517358
27cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.80054584
28negative regulation of synaptic transmission, GABAergic (GO:0032229)3.73864231
29regulation of neuronal synaptic plasticity (GO:0048168)3.72609532
30axonal fasciculation (GO:0007413)3.71922556
31neuron-neuron synaptic transmission (GO:0007270)3.71268953
32regulation of synaptic vesicle transport (GO:1902803)3.54587130
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.51590944
34transmission of nerve impulse (GO:0019226)3.48602490
35gamma-aminobutyric acid transport (GO:0015812)3.47324322
36negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.46849081
37regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.46272059
38neurotransmitter secretion (GO:0007269)3.45840878
39adult walking behavior (GO:0007628)3.44934035
40negative regulation of neurotransmitter transport (GO:0051589)3.41355371
41long-chain fatty acid biosynthetic process (GO:0042759)3.39632192
42cellular sodium ion homeostasis (GO:0006883)3.37869730
43regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.36892334
44neuronal ion channel clustering (GO:0045161)3.36672567
45neurotransmitter-gated ion channel clustering (GO:0072578)3.36182258
46regulation of long-term neuronal synaptic plasticity (GO:0048169)3.34722927
47glycine transport (GO:0015816)3.28630645
48cerebellar Purkinje cell differentiation (GO:0021702)3.26126660
49positive regulation of synapse maturation (GO:0090129)3.25792092
50postsynaptic membrane organization (GO:0001941)3.25703420
51L-amino acid import (GO:0043092)3.24982491
52regulation of excitatory postsynaptic membrane potential (GO:0060079)3.24153953
53detection of calcium ion (GO:0005513)3.22680592
54dendrite morphogenesis (GO:0048813)3.20966591
55cell communication by electrical coupling (GO:0010644)3.19852818
56positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.19619123
57gamma-aminobutyric acid signaling pathway (GO:0007214)3.19246301
58regulation of synapse structural plasticity (GO:0051823)3.19214009
59long-term memory (GO:0007616)3.17435264
60regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.17230774
61regulation of neurotransmitter secretion (GO:0046928)3.13665269
62G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.13318112
63regulation of voltage-gated calcium channel activity (GO:1901385)3.13084905
64cerebral cortex radially oriented cell migration (GO:0021799)3.11533378
65neurotransmitter transport (GO:0006836)3.10934631
66exploration behavior (GO:0035640)3.10630037
67regulation of postsynaptic membrane potential (GO:0060078)3.10347976
68potassium ion import (GO:0010107)3.10123945
69potassium ion homeostasis (GO:0055075)3.09916514
70establishment of mitochondrion localization (GO:0051654)3.09020951
71regulation of respiratory system process (GO:0044065)3.08621252
72membrane hyperpolarization (GO:0060081)3.08198197
73startle response (GO:0001964)3.07750079
74synaptic vesicle endocytosis (GO:0048488)3.07380978
75positive regulation of synaptic transmission, GABAergic (GO:0032230)3.06653047
76layer formation in cerebral cortex (GO:0021819)3.06623613
77auditory behavior (GO:0031223)3.06598740
78response to auditory stimulus (GO:0010996)3.06259724
79mechanosensory behavior (GO:0007638)3.05725352
80positive regulation of synapse assembly (GO:0051965)3.04893775
81central nervous system projection neuron axonogenesis (GO:0021952)3.04266052
82regulation of synaptic transmission, glutamatergic (GO:0051966)3.03343213
83positive regulation of membrane potential (GO:0045838)3.02461363
84negative regulation of dendrite morphogenesis (GO:0050774)3.01713098
85long-term synaptic potentiation (GO:0060291)3.01610264
86regulation of neurotransmitter transport (GO:0051588)3.00053479
87positive regulation of dendritic spine development (GO:0060999)2.98892801
88synapse assembly (GO:0007416)2.96854514
89positive regulation of dendritic spine morphogenesis (GO:0061003)2.96403070
90regulation of synaptic plasticity (GO:0048167)2.94906286
91negative regulation of protein localization to cell surface (GO:2000009)2.93796377
92regulation of dendritic spine development (GO:0060998)2.92687694
93membrane depolarization during action potential (GO:0086010)2.91677198
94regulation of respiratory gaseous exchange (GO:0043576)2.90586595
95positive regulation of neurotransmitter secretion (GO:0001956)2.89773799
96membrane depolarization (GO:0051899)2.89303259
97regulation of synaptic transmission, GABAergic (GO:0032228)2.87544749
98C4-dicarboxylate transport (GO:0015740)2.86973025
99regulation of dendritic spine morphogenesis (GO:0061001)2.86139919
100regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.86116175
101substrate-independent telencephalic tangential migration (GO:0021826)2.83462380
102substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.83462380
103cell communication involved in cardiac conduction (GO:0086065)2.83129318
104amino acid import (GO:0043090)2.82767199
105positive regulation of neurotransmitter transport (GO:0051590)2.82458992
106cerebellar granule cell differentiation (GO:0021707)2.82300055
107cellular potassium ion homeostasis (GO:0030007)2.81189590
108learning (GO:0007612)2.80497516
109regulation of cell communication by electrical coupling (GO:0010649)2.79033597
110negative regulation of dendrite development (GO:2000171)2.78447277
111regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.78069676
112regulation of neurotransmitter levels (GO:0001505)2.77955886
113regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.74807455
114regulation of vesicle fusion (GO:0031338)2.74155141
115neuromuscular process controlling posture (GO:0050884)2.72308525
116positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.71894127
117dendrite development (GO:0016358)2.70242501
118synaptic transmission (GO:0007268)2.70016628
119cell migration in hindbrain (GO:0021535)2.69964569
120proline transport (GO:0015824)2.69905431
121neuron remodeling (GO:0016322)2.69383059
122neurotransmitter uptake (GO:0001504)2.69209375
123neuromuscular synaptic transmission (GO:0007274)2.65664429
124chemosensory behavior (GO:0007635)2.64930354
125prepulse inhibition (GO:0060134)2.62693817
126regulation of synapse maturation (GO:0090128)2.62502382
127neuromuscular process controlling balance (GO:0050885)2.59290077

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.73481430
2GBX2_23144817_ChIP-Seq_PC3_Human3.91539274
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.93460375
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.86402286
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79853972
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.52444101
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52022607
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52022607
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.45709631
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.44474296
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.43960397
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.34662827
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.33395568
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.30115149
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.29542476
16REST_21632747_ChIP-Seq_MESCs_Mouse2.26387948
17EZH2_27294783_Chip-Seq_ESCs_Mouse2.20385017
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.14644620
19DROSHA_22980978_ChIP-Seq_HELA_Human2.11557094
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.07391970
21AR_21572438_ChIP-Seq_LNCaP_Human2.03589731
22GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.03288985
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.01526442
24TAF15_26573619_Chip-Seq_HEK293_Human2.00690465
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.95715007
26ZFP57_27257070_Chip-Seq_ESCs_Mouse1.91652339
27RARB_27405468_Chip-Seq_BRAIN_Mouse1.89413367
28* REST_18959480_ChIP-ChIP_MESCs_Mouse1.79839293
29BMI1_23680149_ChIP-Seq_NPCS_Mouse1.74949083
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.74009560
31PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.73409264
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.71113272
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.71073983
34TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.69384900
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.68423439
36SMAD4_21799915_ChIP-Seq_A2780_Human1.60723552
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57204944
38P300_19829295_ChIP-Seq_ESCs_Human1.56935646
39IGF1R_20145208_ChIP-Seq_DFB_Human1.56679638
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.55792369
41RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.50927019
42IKZF1_21737484_ChIP-ChIP_HCT116_Human1.49693118
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47239640
44MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.46222731
45OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45939036
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44398088
47RBPJ_22232070_ChIP-Seq_NCS_Mouse1.41416773
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.39234264
49* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.38648168
50RNF2_27304074_Chip-Seq_NSC_Mouse1.33766624
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30293403
52PIAS1_25552417_ChIP-Seq_VCAP_Human1.28316092
53STAT3_23295773_ChIP-Seq_U87_Human1.28223669
54CDX2_19796622_ChIP-Seq_MESCs_Mouse1.24607536
55EP300_21415370_ChIP-Seq_HL-1_Mouse1.22131826
56TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20846899
57CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.20121709
58AR_25329375_ChIP-Seq_VCAP_Human1.19274361
59VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.18746113
60RING1B_27294783_Chip-Seq_ESCs_Mouse1.18006818
61RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.17481910
62SOX2_21211035_ChIP-Seq_LN229_Gbm1.16498146
63* TCF4_23295773_ChIP-Seq_U87_Human1.16052192
64EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.15918237
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15209829
66* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.15139189
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14693846
68TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12883803
69ER_23166858_ChIP-Seq_MCF-7_Human1.12451814
70TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12126960
71LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10501412
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.10097371
73NANOG_18555785_Chip-Seq_ESCs_Mouse1.10008086
74RING1B_27294783_Chip-Seq_NPCs_Mouse1.09232727
75WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08905945
76AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.08862168
77NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08799092
78POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.06515568
79TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06515568
80PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.06309137
81SMAD_19615063_ChIP-ChIP_OVARY_Human1.06192644
82AHR_22903824_ChIP-Seq_MCF-7_Human1.05387140
83CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05381353
84FUS_26573619_Chip-Seq_HEK293_Human1.05337083
85AR_19668381_ChIP-Seq_PC3_Human1.04966848
86SOX9_26525672_Chip-Seq_HEART_Mouse1.04278508
87ZNF274_21170338_ChIP-Seq_K562_Hela1.04199891
88ERG_21242973_ChIP-ChIP_JURKAT_Human1.03256295
89ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.03129371
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02903109
91PRDM14_20953172_ChIP-Seq_ESCs_Human1.02649336
92UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01735339
93RUNX2_22187159_ChIP-Seq_PCA_Human1.00939949
94NR3C1_23031785_ChIP-Seq_PC12_Mouse1.00800535
95CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.98509924
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.98109203
97YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97951790
98ZNF217_24962896_ChIP-Seq_MCF-7_Human0.97874127
99MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.97639497
100FLI1_27457419_Chip-Seq_LIVER_Mouse0.96875726
101CMYC_18555785_Chip-Seq_ESCs_Mouse0.96590372
102E2F1_18555785_Chip-Seq_ESCs_Mouse0.96329546
103VDR_22108803_ChIP-Seq_LS180_Human0.95880931
104TP53_16413492_ChIP-PET_HCT116_Human0.94761141
105TAL1_26923725_Chip-Seq_HPCs_Mouse0.93638025
106RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.92407450
107P53_22387025_ChIP-Seq_ESCs_Mouse0.91864205
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91149145
109SUZ12_18555785_Chip-Seq_ESCs_Mouse0.90637742
110KDM2B_26808549_Chip-Seq_REH_Human0.89189158
111SMAD4_21741376_ChIP-Seq_HESCs_Human0.89005459

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.82300686
2MP0003880_abnormal_central_pattern4.52850655
3MP0003635_abnormal_synaptic_transmissio3.39774958
4MP0004270_analgesia3.35689413
5MP0005423_abnormal_somatic_nervous3.21977346
6MP0009745_abnormal_behavioral_response2.95397847
7MP0002064_seizures2.88056148
8MP0002063_abnormal_learning/memory/cond2.80353239
9MP0001968_abnormal_touch/_nociception2.78288579
10MP0001486_abnormal_startle_reflex2.73171961
11MP0009046_muscle_twitch2.72479238
12MP0002272_abnormal_nervous_system2.71932760
13MP0002572_abnormal_emotion/affect_behav2.52419575
14MP0002734_abnormal_mechanical_nocicepti2.49155926
15MP0002735_abnormal_chemical_nociception2.45644473
16MP0000778_abnormal_nervous_system2.32044328
17MP0005645_abnormal_hypothalamus_physiol2.19768803
18MP0002736_abnormal_nociception_after2.16254800
19MP0002822_catalepsy2.14261211
20MP0005646_abnormal_pituitary_gland2.05814276
21MP0006276_abnormal_autonomic_nervous2.05356944
22MP0002067_abnormal_sensory_capabilities2.04077959
23MP0001529_abnormal_vocalization1.98198356
24MP0001440_abnormal_grooming_behavior1.98091487
25MP0001970_abnormal_pain_threshold1.97278569
26MP0000920_abnormal_myelination1.91448306
27MP0002733_abnormal_thermal_nociception1.90383176
28MP0008569_lethality_at_weaning1.84477706
29MP0002184_abnormal_innervation1.82474505
30MP0002557_abnormal_social/conspecific_i1.81896168
31MP0001501_abnormal_sleep_pattern1.77527081
32MP0004142_abnormal_muscle_tone1.75214867
33MP0003787_abnormal_imprinting1.73189342
34MP0004742_abnormal_vestibular_system1.72705728
35MP0001984_abnormal_olfaction1.72137415
36MP0004924_abnormal_behavior1.66588284
37MP0005386_behavior/neurological_phenoty1.66588284
38MP0001188_hyperpigmentation1.65761245
39MP0000955_abnormal_spinal_cord1.63981226
40MP0004885_abnormal_endolymph1.61257253
41MP0003122_maternal_imprinting1.58960507
42MP0002882_abnormal_neuron_morphology1.54159337
43MP0001905_abnormal_dopamine_level1.52833801
44MP0004811_abnormal_neuron_physiology1.51382026
45MP0005551_abnormal_eye_electrophysiolog1.45287728
46MP0003633_abnormal_nervous_system1.42980677
47MP0005409_darkened_coat_color1.42137327
48MP0002066_abnormal_motor_capabilities/c1.40114263
49MP0001502_abnormal_circadian_rhythm1.39151050
50MP0005171_absent_coat_pigmentation1.36007443
51MP0003631_nervous_system_phenotype1.27349514
52MP0003329_amyloid_beta_deposits1.26973176
53MP0002229_neurodegeneration1.26095323
54MP0004858_abnormal_nervous_system1.23513653
55MP0006292_abnormal_olfactory_placode1.20499248
56MP0003634_abnormal_glial_cell1.16939179
57MP0005394_taste/olfaction_phenotype1.15577599
58MP0005499_abnormal_olfactory_system1.15577599
59MP0004215_abnormal_myocardial_fiber1.15330455
60MP0003690_abnormal_glial_cell1.14983177
61MP0000631_abnormal_neuroendocrine_gland1.12881828
62MP0004145_abnormal_muscle_electrophysio1.12357306
63MP0002152_abnormal_brain_morphology1.12159474
64MP0001963_abnormal_hearing_physiology1.09904099
65MP0001485_abnormal_pinna_reflex1.09443660
66MP0003123_paternal_imprinting1.08475523
67MP0002752_abnormal_somatic_nervous1.08301207
68MP0002837_dystrophic_cardiac_calcinosis1.07911186
69MP0001986_abnormal_taste_sensitivity1.05696070
70MP0003879_abnormal_hair_cell1.05156990
71MP0003632_abnormal_nervous_system0.98581107
72MP0009780_abnormal_chondrocyte_physiolo0.98376155
73MP0002102_abnormal_ear_morphology0.96526610
74MP0008877_abnormal_DNA_methylation0.94796369
75MP0002638_abnormal_pupillary_reflex0.93883851
76MP0005187_abnormal_penis_morphology0.93780307
77MP0008260_abnormal_autophagy0.93262976
78MP0000569_abnormal_digit_pigmentation0.92230008
79MP0002909_abnormal_adrenal_gland0.89655245
80MP0000751_myopathy0.88831679
81MP0001177_atelectasis0.88733906
82MP0004147_increased_porphyrin_level0.88658268
83MP0010386_abnormal_urinary_bladder0.85365494
84MP0002069_abnormal_eating/drinking_beha0.83917271
85MP0000026_abnormal_inner_ear0.83212068
86MP0002234_abnormal_pharynx_morphology0.80651056
87MP0006072_abnormal_retinal_apoptosis0.78690811
88MP0005253_abnormal_eye_physiology0.78119095
89MP0003121_genomic_imprinting0.77381255
90MP0003283_abnormal_digestive_organ0.77264002
91MP0008789_abnormal_olfactory_epithelium0.75735901
92MP0004043_abnormal_pH_regulation0.74538218
93MP0003137_abnormal_impulse_conducting0.72793395
94MP0004085_abnormal_heartbeat0.70944081
95MP0003861_abnormal_nervous_system0.69387315
96MP0005167_abnormal_blood-brain_barrier0.69042785
97MP0003136_yellow_coat_color0.68685966
98MP0004134_abnormal_chest_morphology0.68322786
99MP0002090_abnormal_vision0.67840323
100MP0001299_abnormal_eye_distance/0.65513474
101MP0002751_abnormal_autonomic_nervous0.63347066
102MP0001346_abnormal_lacrimal_gland0.62963957
103MP0005248_abnormal_Harderian_gland0.62016569
104MP0001943_abnormal_respiration0.61933055
105MP0004036_abnormal_muscle_relaxation0.61656626
106MP0008872_abnormal_physiological_respon0.61510399
107MP0002938_white_spotting0.61146201
108MP0010769_abnormal_survival0.60050866
109MP0004130_abnormal_muscle_cell0.57700829
110MP0008874_decreased_physiological_sensi0.57627793
111MP0010768_mortality/aging0.57253447
112MP0002876_abnormal_thyroid_physiology0.57196012
113MP0002082_postnatal_lethality0.56478464
114MP0010770_preweaning_lethality0.56478464
115MP0005535_abnormal_body_temperature0.56320098
116MP0005195_abnormal_posterior_eye0.55936703
117MP0003938_abnormal_ear_development0.55560610
118MP0000566_synostosis0.55245504

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.98269314
2Myokymia (HP:0002411)4.95945571
3Focal seizures (HP:0007359)4.34709262
4Epileptic encephalopathy (HP:0200134)4.19884256
5Febrile seizures (HP:0002373)3.95324910
6Ankle clonus (HP:0011448)3.86621762
7Action tremor (HP:0002345)3.80188558
8Progressive cerebellar ataxia (HP:0002073)3.67024256
9Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.65908125
10Degeneration of the lateral corticospinal tracts (HP:0002314)3.65908125
11Abnormality of the corticospinal tract (HP:0002492)3.49850141
12Supranuclear gaze palsy (HP:0000605)3.41095230
13Atonic seizures (HP:0010819)3.37587591
14Termporal pattern (HP:0011008)3.36946107
15Insidious onset (HP:0003587)3.36946107
16Broad-based gait (HP:0002136)3.34447568
17Urinary bladder sphincter dysfunction (HP:0002839)3.18181995
18Hyperventilation (HP:0002883)3.08326634
19Truncal ataxia (HP:0002078)3.04760341
20Limb dystonia (HP:0002451)3.00276389
21Visual hallucinations (HP:0002367)2.96896915
22Spastic gait (HP:0002064)2.92750875
23Scanning speech (HP:0002168)2.89907046
24Absent speech (HP:0001344)2.83094365
25Dysmetria (HP:0001310)2.81598601
26Diplopia (HP:0000651)2.81383100
27Abnormality of binocular vision (HP:0011514)2.81383100
28Neurofibrillary tangles (HP:0002185)2.80847943
29Gaze-evoked nystagmus (HP:0000640)2.77045705
30Status epilepticus (HP:0002133)2.75726771
31Absence seizures (HP:0002121)2.73893549
32Poor eye contact (HP:0000817)2.73509713
33Urinary urgency (HP:0000012)2.72093967
34Drooling (HP:0002307)2.67841432
35Excessive salivation (HP:0003781)2.67841432
36Dialeptic seizures (HP:0011146)2.66877626
37Impaired vibration sensation in the lower limbs (HP:0002166)2.62509590
38Generalized tonic-clonic seizures (HP:0002069)2.61145926
39Retinal dysplasia (HP:0007973)2.60350624
40Bundle branch block (HP:0011710)2.59068489
41Papilledema (HP:0001085)2.58258569
42Abnormal eating behavior (HP:0100738)2.54171903
43Blue irides (HP:0000635)2.51167965
44Fetal akinesia sequence (HP:0001989)2.49341093
45Anxiety (HP:0000739)2.44295638
46Lower limb muscle weakness (HP:0007340)2.42038609
47Morphological abnormality of the pyramidal tract (HP:0002062)2.34754918
48Pheochromocytoma (HP:0002666)2.34562455
49Gait imbalance (HP:0002141)2.33846913
50Progressive inability to walk (HP:0002505)2.31373411
51Onion bulb formation (HP:0003383)2.30981296
52Peripheral hypomyelination (HP:0007182)2.30534842
53Abnormal social behavior (HP:0012433)2.30491013
54Impaired social interactions (HP:0000735)2.30491013
55Depression (HP:0000716)2.29786905
56Dysdiadochokinesis (HP:0002075)2.28408141
57Protruding tongue (HP:0010808)2.27544813
58Focal dystonia (HP:0004373)2.24578542
59Akinesia (HP:0002304)2.23914681
60Amblyopia (HP:0000646)2.22807096
61Bradykinesia (HP:0002067)2.20571342
62Polyphagia (HP:0002591)2.20399452
63Specific learning disability (HP:0001328)2.20154448
64Intention tremor (HP:0002080)2.19737767
65Abnormal hair whorl (HP:0010721)2.19484592
66Hemiparesis (HP:0001269)2.18806061
67Impaired vibratory sensation (HP:0002495)2.17104405
68Increased circulating renin level (HP:0000848)2.12279374
69Agitation (HP:0000713)2.11031049
70Ulnar claw (HP:0001178)2.09278545
71Impaired smooth pursuit (HP:0007772)2.08295324
72Neuroendocrine neoplasm (HP:0100634)2.06310154
73Mutism (HP:0002300)2.06108245
74Cerebral inclusion bodies (HP:0100314)2.05851786
75Medial flaring of the eyebrow (HP:0010747)2.05270107
76Abnormality of ocular smooth pursuit (HP:0000617)2.04801610
77Abnormality of the lower motor neuron (HP:0002366)2.03964943
78Genetic anticipation (HP:0003743)2.02506311
79Aplasia of the phalanges of the hand (HP:0009802)2.01967151
80Aplasia involving bones of the extremities (HP:0009825)2.01967151
81Aplasia involving bones of the upper limbs (HP:0009823)2.01967151
82Bowel incontinence (HP:0002607)2.01925225
83Craniofacial dystonia (HP:0012179)1.99936844
84Epileptiform EEG discharges (HP:0011182)1.99658559
85Psychosis (HP:0000709)1.99647589
86Abnormality of salivation (HP:0100755)1.97759625
87Congenital primary aphakia (HP:0007707)1.97248872
88Syncope (HP:0001279)1.94873281
89Postural instability (HP:0002172)1.94187407
90Clonus (HP:0002169)1.93008111
91EEG with generalized epileptiform discharges (HP:0011198)1.92645599
92Genital tract atresia (HP:0001827)1.91889904
93Prolonged QT interval (HP:0001657)1.91387729
94Inability to walk (HP:0002540)1.90601687
95Heart block (HP:0012722)1.90393024
96Vaginal atresia (HP:0000148)1.89040561
97Torticollis (HP:0000473)1.87623091
98Abnormal large intestine physiology (HP:0012700)1.87524340
99Dynein arm defect of respiratory motile cilia (HP:0012255)1.86425628
100Absent/shortened dynein arms (HP:0200106)1.86425628
101Nephrogenic diabetes insipidus (HP:0009806)1.86149065
102Hypsarrhythmia (HP:0002521)1.84721569
103Hemiplegia (HP:0002301)1.84379074
104Paraplegia (HP:0010550)1.84001185
105Aqueductal stenosis (HP:0002410)1.83892899
106Esotropia (HP:0000565)1.82696300
107Obstructive sleep apnea (HP:0002870)1.82405674
108Rigidity (HP:0002063)1.81861929
109Megalencephaly (HP:0001355)1.80683565
110Dysmetric saccades (HP:0000641)1.80677236
111Delusions (HP:0000746)1.80337004
112Alacrima (HP:0000522)1.80131181
113Incomplete penetrance (HP:0003829)1.79677863
114Anteriorly placed anus (HP:0001545)1.79004324
115Postural tremor (HP:0002174)1.77884256
116Sleep apnea (HP:0010535)1.77201984
117Atrial fibrillation (HP:0005110)1.76819133
118Spastic paraplegia (HP:0001258)1.75051069
119Abnormal EKG (HP:0003115)1.73959528
120Insomnia (HP:0100785)1.73821063
121Dyskinesia (HP:0100660)1.72945510
122Segmental peripheral demyelination/remyelination (HP:0003481)1.72249091
123Gait ataxia (HP:0002066)1.71944870
124Aplasia/Hypoplasia of the brainstem (HP:0007362)1.71059498
125Hypoplasia of the brainstem (HP:0002365)1.71059498
126Primary atrial arrhythmia (HP:0001692)1.69459514
127Steppage gait (HP:0003376)1.68685899
128Sudden death (HP:0001699)1.62719502
129Cerebral hypomyelination (HP:0006808)1.62718152
130Abnormal atrioventricular conduction (HP:0005150)1.60621914
131Ventricular fibrillation (HP:0001663)1.59459264
132Abnormality of the labia minora (HP:0012880)1.58784743
133Tetraplegia (HP:0002445)1.58331221

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.66087480
2EPHA43.21754556
3MARK13.11339524
4CASK2.92983723
5MAP3K42.62643857
6MAPK132.40501847
7FRK2.40207935
8PRPF4B2.39173484
9MAP2K72.37305295
10MAPKAPK52.19176571
11NTRK22.19126416
12TNIK2.13197500
13DAPK22.01241926
14OXSR11.97666558
15CDK191.95663497
16PNCK1.87924722
17MINK11.85674474
18SGK4941.84551344
19SGK2231.84551344
20UHMK11.83304390
21MAP3K91.74310082
22STK391.69989814
23PAK61.68450117
24BCR1.43729372
25FGFR21.38773788
26CDK51.36163236
27PHKG11.34764693
28PHKG21.34764693
29SIK31.27229622
30MAP2K41.22938090
31MARK21.22866975
32CSNK1G21.22329963
33PINK11.21024880
34PKN11.19077076
35PRKD31.18817193
36WNK11.16717344
37NTRK11.15303100
38CAMK2B1.08787863
39MAP3K121.08170064
40PLK21.06407162
41KSR11.04547917
42AKT31.03665160
43CAMK2A1.02882895
44RIPK41.02849646
45SIK21.02387266
46SGK21.01603122
47CSNK1G31.00758382
48OBSCN0.96240719
49LATS20.95381006
50MAP4K20.94466470
51CSNK1A1L0.94288772
52DAPK10.93764722
53GRK50.89989915
54DYRK1A0.86404548
55CAMK10.82675725
56BMPR1B0.82581026
57NEK60.81976395
58CAMKK20.81552191
59FES0.81061412
60PRKCG0.80700374
61TYRO30.80112220
62DYRK20.79624762
63CAMKK10.79517792
64CAMK1G0.79052585
65IRAK20.77585028
66CAMK2D0.77178641
67MAP3K130.76161172
68CDK180.73851799
69BMPR20.73512503
70WNK30.72137291
71SGK10.72130306
72STK380.69953664
73CDK150.69566326
74CDK140.69479524
75PRKCH0.68210592
76MUSK0.68197196
77KSR20.67326069
78MKNK20.66766221
79CDK11A0.65686935
80PRKCE0.65186197
81LMTK20.65042012
82ROCK20.61953985
83CSNK1G10.61254851
84RIPK10.61076425
85INSRR0.60710196
86STK110.60693992
87ADRBK20.60133069
88SGK30.58109788
89CDK30.57412228
90CAMK2G0.57321684
91MAPK120.56323276
92MAP3K20.55753543
93PAK30.55221417
94CAMK1D0.52651668
95CSNK1A10.49152108
96FGR0.48514490
97PRKAA10.48455459
98CSNK1D0.48379411
99GRK70.47742313
100WNK40.46278390
101RPS6KA20.45786046
102MAP3K70.45610851
103PIK3CA0.44946408
104CAMK40.44312047
105PRKACA0.43549134
106FYN0.43419363
107PRKG10.43229485
108PDK10.42699213
109YES10.40539128
110ROCK10.40062750
111PTK2B0.40022676
112RET0.39321852
113ERBB30.39300594
114DMPK0.39142334
115FER0.38575165
116STK38L0.38482898
117PRKCZ0.38461497
118CSNK1E0.37631400
119RPS6KB10.36825951
120TNK20.36799724
121MAPK100.36410499
122RPS6KA30.36061999
123EPHB10.35994005

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.73095066
2Synaptic vesicle cycle_Homo sapiens_hsa047213.05804127
3GABAergic synapse_Homo sapiens_hsa047272.76941702
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.76908057
5Glutamatergic synapse_Homo sapiens_hsa047242.71310701
6Circadian entrainment_Homo sapiens_hsa047132.65654591
7Olfactory transduction_Homo sapiens_hsa047402.64724180
8Morphine addiction_Homo sapiens_hsa050322.62980311
9Amphetamine addiction_Homo sapiens_hsa050312.18884617
10Dopaminergic synapse_Homo sapiens_hsa047282.12304009
11Taste transduction_Homo sapiens_hsa047422.11399619
12Long-term potentiation_Homo sapiens_hsa047202.03394016
13Serotonergic synapse_Homo sapiens_hsa047262.01333841
14Salivary secretion_Homo sapiens_hsa049701.87408061
15Cocaine addiction_Homo sapiens_hsa050301.87187021
16Insulin secretion_Homo sapiens_hsa049111.84749076
17Cholinergic synapse_Homo sapiens_hsa047251.82603711
18Long-term depression_Homo sapiens_hsa047301.76953883
19Gastric acid secretion_Homo sapiens_hsa049711.67692263
20Phototransduction_Homo sapiens_hsa047441.59802986
21Collecting duct acid secretion_Homo sapiens_hsa049661.58961079
22Axon guidance_Homo sapiens_hsa043601.58522861
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.55170598
24Calcium signaling pathway_Homo sapiens_hsa040201.50942215
25Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.50659938
26Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.45882132
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44259675
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.42395091
29Aldosterone synthesis and secretion_Homo sapiens_hsa049251.42118725
30Vitamin B6 metabolism_Homo sapiens_hsa007501.41426254
31Renin secretion_Homo sapiens_hsa049241.40914401
32Oxytocin signaling pathway_Homo sapiens_hsa049211.39743382
33Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.35857417
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.29566507
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26827648
36Butanoate metabolism_Homo sapiens_hsa006501.25964309
37SNARE interactions in vesicular transport_Homo sapiens_hsa041301.20366602
38cAMP signaling pathway_Homo sapiens_hsa040241.20322728
39Gap junction_Homo sapiens_hsa045401.18139548
40GnRH signaling pathway_Homo sapiens_hsa049121.16567833
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16498664
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.10522010
43Vibrio cholerae infection_Homo sapiens_hsa051101.06656501
44Ether lipid metabolism_Homo sapiens_hsa005651.02166547
45Cardiac muscle contraction_Homo sapiens_hsa042601.01143856
46Histidine metabolism_Homo sapiens_hsa003401.00018528
47Type II diabetes mellitus_Homo sapiens_hsa049300.99770121
48Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.99053833
49Bile secretion_Homo sapiens_hsa049760.97505484
50ErbB signaling pathway_Homo sapiens_hsa040120.96829274
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.92987320
52Melanogenesis_Homo sapiens_hsa049160.92565754
53Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.91516488
54Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.88166957
55beta-Alanine metabolism_Homo sapiens_hsa004100.86752570
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.85179556
57Fatty acid biosynthesis_Homo sapiens_hsa000610.84731983
58Fatty acid elongation_Homo sapiens_hsa000620.84619039
59cGMP-PKG signaling pathway_Homo sapiens_hsa040220.84329755
60Pancreatic secretion_Homo sapiens_hsa049720.82034223
61Glucagon signaling pathway_Homo sapiens_hsa049220.81321497
62Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.81027633
63Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.80102752
64Ras signaling pathway_Homo sapiens_hsa040140.79935464
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.79137452
66MAPK signaling pathway_Homo sapiens_hsa040100.77592692
67Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.76143217
68Glioma_Homo sapiens_hsa052140.73680227
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73374366
70Dorso-ventral axis formation_Homo sapiens_hsa043200.73313106
71Estrogen signaling pathway_Homo sapiens_hsa049150.70545688
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.68652216
73ABC transporters_Homo sapiens_hsa020100.68436153
74Propanoate metabolism_Homo sapiens_hsa006400.66707380
75Primary bile acid biosynthesis_Homo sapiens_hsa001200.66365198
76Dilated cardiomyopathy_Homo sapiens_hsa054140.66064453
77Wnt signaling pathway_Homo sapiens_hsa043100.65622787
78Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.65008704
79Choline metabolism in cancer_Homo sapiens_hsa052310.63946800
80Steroid biosynthesis_Homo sapiens_hsa001000.63445931
81Arginine and proline metabolism_Homo sapiens_hsa003300.61873800
82Alcoholism_Homo sapiens_hsa050340.61704007
83Alzheimers disease_Homo sapiens_hsa050100.61404761
84Arginine biosynthesis_Homo sapiens_hsa002200.61161583
85Inositol phosphate metabolism_Homo sapiens_hsa005620.59585002
86Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58800844
87Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.58108797
88Mineral absorption_Homo sapiens_hsa049780.57344393
89Oxidative phosphorylation_Homo sapiens_hsa001900.56677819
90Ovarian steroidogenesis_Homo sapiens_hsa049130.56538489
91Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55437066
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.54032177
93Rap1 signaling pathway_Homo sapiens_hsa040150.53486778
94Fatty acid degradation_Homo sapiens_hsa000710.52706485
95Sphingolipid metabolism_Homo sapiens_hsa006000.51229908
96Maturity onset diabetes of the young_Homo sapiens_hsa049500.50201659
97Thyroid hormone synthesis_Homo sapiens_hsa049180.49325051
98Circadian rhythm_Homo sapiens_hsa047100.48754967
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47506128
100AMPK signaling pathway_Homo sapiens_hsa041520.46945493
101Regulation of autophagy_Homo sapiens_hsa041400.46509925
102Prion diseases_Homo sapiens_hsa050200.46269431
103Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45571824
104Hedgehog signaling pathway_Homo sapiens_hsa043400.44941351
105Oocyte meiosis_Homo sapiens_hsa041140.44667624
106Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.44568435
107Parkinsons disease_Homo sapiens_hsa050120.44269372
108Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.43902296
109Hippo signaling pathway_Homo sapiens_hsa043900.43545508
110Rheumatoid arthritis_Homo sapiens_hsa053230.43385340
111Renal cell carcinoma_Homo sapiens_hsa052110.42277920
112Nitrogen metabolism_Homo sapiens_hsa009100.41919250
113Endocytosis_Homo sapiens_hsa041440.41429539
114Chemokine signaling pathway_Homo sapiens_hsa040620.41225546
115Type I diabetes mellitus_Homo sapiens_hsa049400.38757879
116Neurotrophin signaling pathway_Homo sapiens_hsa047220.37958031
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37741436
118Fatty acid metabolism_Homo sapiens_hsa012120.37479670
119Linoleic acid metabolism_Homo sapiens_hsa005910.37283342
120mTOR signaling pathway_Homo sapiens_hsa041500.36865125
121Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35948216
122Phenylalanine metabolism_Homo sapiens_hsa003600.35544030
123Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33885190
124Tight junction_Homo sapiens_hsa045300.33515085
125Carbohydrate digestion and absorption_Homo sapiens_hsa049730.33486183
126Phagosome_Homo sapiens_hsa041450.32798334
127Glycerophospholipid metabolism_Homo sapiens_hsa005640.32134388
128Endometrial cancer_Homo sapiens_hsa052130.31646250

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